PubTransformer

A site to transform Pubmed publications into these bibliographic reference formats: ADS, BibTeX, EndNote, ISI used by the Web of Knowledge, RIS, MEDLINE, Microsoft's Word 2007 XML.

Physiological and Optical Alterations Precede the Appearance of Cataracts in Cx46fs380 Mice.

Abstract Cx46fs380 mice model a human autosomal-dominant cataract caused by a mutant lens connexin46, Cx46. Lenses from Cx46fs380 mice develop cataracts that are first observed at ∼2 months in homozygotes and at ≥4 months in heterozygotes. The present studies were conducted to determine whether Cx46fs380 mouse lenses exhibited abnormalities before there are detectable cataracts.
PMID
Related Publications

Lens gap junctional coupling is modulated by connexin identity and the locus of gene expression.

Connexin23 deletion does not affect lens transparency.

Dominant cataracts result from incongruous mixing of wild-type lens connexins.

Connexin50D47A decreases levels of fiber cell connexins and impairs lens fiber cell differentiation.

Connexin46fs380 causes progressive cataracts.

Authors

Mayor MeshTerms

Disease Models, Animal

Keywords
Journal Title investigative ophthalmology & visual science
Publication Year Start




PMID- 28810266
OWN - NLM
STAT- MEDLINE
DA  - 20170815
DCOM- 20170825
LR  - 20170825
IS  - 1552-5783 (Electronic)
IS  - 0146-0404 (Linking)
VI  - 58
IP  - 10
DP  - 2017 Aug 01
TI  - Physiological and Optical Alterations Precede the Appearance of Cataracts in
      Cx46fs380 Mice.
PG  - 4086-4094
LID - 10.1167/iovs.17-21684 [doi]
AB  - Purpose: Cx46fs380 mice model a human autosomal-dominant cataract caused by a
      mutant lens connexin46, Cx46. Lenses from Cx46fs380 mice develop cataracts that
      are first observed at approximately 2 months in homozygotes and at >/=4 months in
      heterozygotes. The present studies were conducted to determine whether Cx46fs380 
      mouse lenses exhibited abnormalities before there are detectable cataracts.
      Methods: Lenses from wild-type and Cx46fs380 mice were studied at 1 to 3 months
      of age. Connexin levels were determined by immunoblotting. Gap junctional
      coupling was calculated from intracellular impedance studies of intact lenses.
      Optical quality and refractive properties were assessed by laser scanning and by 
      photographing a 200-mesh electron microscopy grid through wild-type and Cx46fs380
      mouse lenses. Results: Connexin46 and connexin50 levels were severely reduced in 
      mutant lenses. Gap junctional coupling was decreased in differentiating and
      mature fibers from Cx46fs380 lenses; in homozygotes, the mature fibers had no
      detectable coupling. Homozygous lenses were slightly smaller and had reduced
      focal lengths. Heterozygous and homozygous lenses significantly distorted the
      electron microscopy grid pattern as compared with wild-type lenses. Conclusions: 
      Before cataract appearance, Cx46fs380 lenses have decreased gap junctional
      conductance (at least in heterozygotes) and alterations in refractive properties 
      (heterozygotes and homozygotes). The decreased focal distance of Cx46fs380
      homozygous lenses is consistent with an increase in refractive index due to
      changes in cellular composition. These data suggest that Cx46fs380 lenses undergo
      a sequence of changes before the appearance of cataracts: low levels of
      connexins, decreased gap junction coupling, alterations in lens cell homeostasis,
      and changes in refractive index.
FAU - Minogue, Peter J
AU  - Minogue PJ
AD  - Department of Pediatrics, University of Chicago, Chicago, Illinois, United
      States.
FAU - Gao, Junyuan
AU  - Gao J
AD  - Department of Physiology and Biophysics, Stony Brook University, Stony Brook, New
      York, United States.
FAU - Zoltoski, Rebecca K
AU  - Zoltoski RK
AD  - Illinois College of Optometry, Chicago, Illinois, United States.
FAU - Novak, Layne A
AU  - Novak LA
AD  - Illinois College of Optometry, Chicago, Illinois, United States.
FAU - Mathias, Richard T
AU  - Mathias RT
AD  - Department of Physiology and Biophysics, Stony Brook University, Stony Brook, New
      York, United States.
FAU - Beyer, Eric C
AU  - Beyer EC
AD  - Department of Pediatrics, University of Chicago, Chicago, Illinois, United
      States.
FAU - Berthoud, Viviana M
AU  - Berthoud VM
AD  - Department of Pediatrics, University of Chicago, Chicago, Illinois, United
      States.
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Invest Ophthalmol Vis Sci
JT  - Investigative ophthalmology & visual science
JID - 7703701
RN  - 0 (Connexins)
RN  - 0 (connexin 46)
RN  - 0 (connexin 50)
RN  - Cataract, Autosomal Dominant
SB  - IM
MH  - Animals
MH  - Cataract/*genetics/metabolism/*pathology
MH  - Connexins/*genetics
MH  - *Disease Models, Animal
MH  - Electric Impedance
MH  - Electrophysiology
MH  - Female
MH  - Gap Junctions/physiology
MH  - Gene Expression Regulation/*physiology
MH  - Immunoblotting
MH  - Lens, Crystalline/metabolism/*pathology
MH  - Male
MH  - Mice
MH  - Mice, Inbred C57BL
MH  - Real-Time Polymerase Chain Reaction
PMC - PMC5558631
EDAT- 2017/08/16 06:00
MHDA- 2017/08/26 06:00
CRDT- 2017/08/16 06:00
AID - 2649080 [pii]
AID - 10.1167/iovs.17-21684 [doi]
PST - ppublish
SO  - Invest Ophthalmol Vis Sci. 2017 Aug 1;58(10):4086-4094. doi:
      10.1167/iovs.17-21684.